{"id":"W3030349097","doi":"10.1097/md.0000000000019965","title":"Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family","year":2020,"lang":"en","type":"article","venue":"Medicine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Artificial Intelligence in Medicine (Canada)","funders":"","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Medicine; Endocrinology; Internal medicine; Brachydactyly; Parathyroid hormone; Short stature; Hypoparathyroidism; Genetics; Gene; Biology; Calcium","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001762173,0.0009366496,0.0004149759,0.001329558,0.00147659,0.0003025681,0.000700092,0.001177218,0.002711922],"category_scores_gemma":[0.0007097705,0.0003105507,0.0006888023,0.0009120005,0.0007441385,0.0003152024,0.000518574,0.0006217779,0.0002522533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005599294,"about_ca_system_score_gemma":0.0007454246,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008645629,"about_ca_topic_score_gemma":0.005566801,"domain_scores_codex":[0.9997726,0.00001568313,0.00002805,0.0000964471,0.00003831633,0.00004902851],"domain_scores_gemma":[0.9997117,0.00008356058,0.00005469979,0.0000183822,0.00002978313,0.0001018963],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00007063433,0.00005972353,0.05432443,0.0000653401,0.00003229715,0.9198594,0.00141016,0.0001496186,0.01873324,0.0003482101,0.0003595205,0.004587392],"study_design_scores_gemma":[0.00002919925,0.0001906827,0.09618274,0.00003060708,0.00007270677,0.8965323,0.0005320842,0.0006887957,0.003608867,0.0001966506,0.001907326,0.00002810649],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969398,0.0003531833,0.0007427504,0.0003977499,0.00003586659,0.00003840107,0.0001451889,0.00002842459,0.001318681],"genre_scores_gemma":[0.9984031,0.0002159372,0.0005298816,0.0001240204,0.00003828392,0.00001443112,0.00007746644,0.000008733145,0.0005880901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008645629,"threshold_uncertainty_score":0.01719058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01824139474570517,"score_gpt":0.2923482873663661,"score_spread":0.274106892620661,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}